A Novel Mutation in the Membrane Frizzled-Related Protein Gene for Posterior Microphthalmia, Non-pigmented Retinitis Pigmentosa, Optic Nerve Drusen, and Retinoschisis in a Consanguineous Family
BackgroundMicrophthalmos (MCO) is a rare developmental defect characterized by small malformed eyes. Our study aimed to describe the clinical characteristics of posterior microphthalmos syndrome caused by a novel variant in MFRP gene in a Chinese patient.MethodsComplete ophthalmologic examinations w...
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Frontiers Media S.A.
2022-03-01
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| author | Xiang Ren Xiang Ren Yunxia Gao Yu Lin Yu Lin Xiangyu Fu Xiangyu Fu Lirong Xiao Xiaoyue Wang Zhibing Zeng Li Bao Naihong Yan Ming Zhang Li Tang |
| author_facet | Xiang Ren Xiang Ren Yunxia Gao Yu Lin Yu Lin Xiangyu Fu Xiangyu Fu Lirong Xiao Xiaoyue Wang Zhibing Zeng Li Bao Naihong Yan Ming Zhang Li Tang |
| author_sort | Xiang Ren |
| collection | DOAJ |
| description | BackgroundMicrophthalmos (MCO) is a rare developmental defect characterized by small malformed eyes. Our study aimed to describe the clinical characteristics of posterior microphthalmos syndrome caused by a novel variant in MFRP gene in a Chinese patient.MethodsComplete ophthalmologic examinations were performed for the proband and proband's family members. Whole exon sequencing (WES) and Sanger sequencing were used to identify the mutated genes, and bioinformatic analysis was undertaken to predict the effect of this variant.ResultsClinical analysis showed that the proband had reduced axial length (17.95 and 17.98 mm) with normal-size corneas and shallow anterior chamber depth. Fundus photography showed scattered yellowish-white spots in the whole retina with cup-to-disc ratios of 0.95 in both eyes. Retinoschisis in the inner nuclear layer and reduced outer retina thickness were apparent on OCT examination, and optic nerve drusen demonstrated increased autofluorescence in fundus autofluorescence (FAF). Perimeter examination revealed a tubular visual field for the right eye, and electroretinography (ERG) revealed a moderately reduced rod response combined with compromised cone response. Ocular examinations of the patient's family members were unremarkable. WES revealed that the proband had homozygous mutations in c.55-1 (IVS1) G>A in intron 1 for the MFRP gene. Both the proband's parents and offspring were confirmed to be heterozygous by Sanger sequencing. Bioinformatic analysis showed this mutation was deleterious.ConclusionWe reported autosomal recessive posterior microphthalmia, atypical retinitis pigmentosa, and retinoschisis caused by a novel mutation in the MFRP gene in this consanguineous marriage family. Our study further broadens the mutation and phenotype spectrum of the MFRP gene in microphthalmia. |
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| spelling | doaj.art-aef00bfed1864e4b8c216854e33d39c02022-12-22T02:50:23ZengFrontiers Media S.A.Frontiers in Medicine2296-858X2022-03-01910.3389/fmed.2022.835621835621A Novel Mutation in the Membrane Frizzled-Related Protein Gene for Posterior Microphthalmia, Non-pigmented Retinitis Pigmentosa, Optic Nerve Drusen, and Retinoschisis in a Consanguineous FamilyXiang Ren0Xiang Ren1Yunxia Gao2Yu Lin3Yu Lin4Xiangyu Fu5Xiangyu Fu6Lirong Xiao7Xiaoyue Wang8Zhibing Zeng9Li Bao10Naihong Yan11Ming Zhang12Li Tang13Ophthalmic Laboratory, Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, ChinaResearch Laboratory of Ophthalmology and Vision Sciences, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu, ChinaOphthalmic Laboratory, Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, ChinaOphthalmic Laboratory, Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, ChinaResearch Laboratory of Ophthalmology and Vision Sciences, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu, ChinaOphthalmic Laboratory, Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, ChinaResearch Laboratory of Ophthalmology and Vision Sciences, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu, ChinaResearch Laboratory of Ophthalmology and Vision Sciences, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu, ChinaOphthalmic Laboratory, Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, ChinaOphthalmic Laboratory, Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, ChinaOphthalmic Laboratory, Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, ChinaResearch Laboratory of Ophthalmology and Vision Sciences, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu, ChinaOphthalmic Laboratory, Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, ChinaOphthalmic Laboratory, Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, ChinaBackgroundMicrophthalmos (MCO) is a rare developmental defect characterized by small malformed eyes. Our study aimed to describe the clinical characteristics of posterior microphthalmos syndrome caused by a novel variant in MFRP gene in a Chinese patient.MethodsComplete ophthalmologic examinations were performed for the proband and proband's family members. Whole exon sequencing (WES) and Sanger sequencing were used to identify the mutated genes, and bioinformatic analysis was undertaken to predict the effect of this variant.ResultsClinical analysis showed that the proband had reduced axial length (17.95 and 17.98 mm) with normal-size corneas and shallow anterior chamber depth. Fundus photography showed scattered yellowish-white spots in the whole retina with cup-to-disc ratios of 0.95 in both eyes. Retinoschisis in the inner nuclear layer and reduced outer retina thickness were apparent on OCT examination, and optic nerve drusen demonstrated increased autofluorescence in fundus autofluorescence (FAF). Perimeter examination revealed a tubular visual field for the right eye, and electroretinography (ERG) revealed a moderately reduced rod response combined with compromised cone response. Ocular examinations of the patient's family members were unremarkable. WES revealed that the proband had homozygous mutations in c.55-1 (IVS1) G>A in intron 1 for the MFRP gene. Both the proband's parents and offspring were confirmed to be heterozygous by Sanger sequencing. Bioinformatic analysis showed this mutation was deleterious.ConclusionWe reported autosomal recessive posterior microphthalmia, atypical retinitis pigmentosa, and retinoschisis caused by a novel mutation in the MFRP gene in this consanguineous marriage family. Our study further broadens the mutation and phenotype spectrum of the MFRP gene in microphthalmia.https://www.frontiersin.org/articles/10.3389/fmed.2022.835621/fullmembrane frizzled-related protein (MFRP) generetinoschisismicrophthalmiaretinitis pigmentosaglaucoma |
| spellingShingle | Xiang Ren Xiang Ren Yunxia Gao Yu Lin Yu Lin Xiangyu Fu Xiangyu Fu Lirong Xiao Xiaoyue Wang Zhibing Zeng Li Bao Naihong Yan Ming Zhang Li Tang A Novel Mutation in the Membrane Frizzled-Related Protein Gene for Posterior Microphthalmia, Non-pigmented Retinitis Pigmentosa, Optic Nerve Drusen, and Retinoschisis in a Consanguineous Family Frontiers in Medicine membrane frizzled-related protein (MFRP) gene retinoschisis microphthalmia retinitis pigmentosa glaucoma |
| title | A Novel Mutation in the Membrane Frizzled-Related Protein Gene for Posterior Microphthalmia, Non-pigmented Retinitis Pigmentosa, Optic Nerve Drusen, and Retinoschisis in a Consanguineous Family |
| title_full | A Novel Mutation in the Membrane Frizzled-Related Protein Gene for Posterior Microphthalmia, Non-pigmented Retinitis Pigmentosa, Optic Nerve Drusen, and Retinoschisis in a Consanguineous Family |
| title_fullStr | A Novel Mutation in the Membrane Frizzled-Related Protein Gene for Posterior Microphthalmia, Non-pigmented Retinitis Pigmentosa, Optic Nerve Drusen, and Retinoschisis in a Consanguineous Family |
| title_full_unstemmed | A Novel Mutation in the Membrane Frizzled-Related Protein Gene for Posterior Microphthalmia, Non-pigmented Retinitis Pigmentosa, Optic Nerve Drusen, and Retinoschisis in a Consanguineous Family |
| title_short | A Novel Mutation in the Membrane Frizzled-Related Protein Gene for Posterior Microphthalmia, Non-pigmented Retinitis Pigmentosa, Optic Nerve Drusen, and Retinoschisis in a Consanguineous Family |
| title_sort | novel mutation in the membrane frizzled related protein gene for posterior microphthalmia non pigmented retinitis pigmentosa optic nerve drusen and retinoschisis in a consanguineous family |
| topic | membrane frizzled-related protein (MFRP) gene retinoschisis microphthalmia retinitis pigmentosa glaucoma |
| url | https://www.frontiersin.org/articles/10.3389/fmed.2022.835621/full |
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